Annotation Detail

Information
Associated Genes
MTHFD1
Associated Variants
MTHFD1 p.Lys134Arg (p.K134R) ( ENST00000557539.2, ENST00000554768.6, ENST00000697174.1, ENST00000545908.6, ENST00000697173.1, ENST00000697168.1, ENST00000652337.1, ENST00000557370.3 )
MTHFD1 p.Lys134Arg (p.K134R) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 )
Associated Disease
Malignant tumor of colon
Source Database
DisGeNET
Description
Meanwhile, the MTHFD1 G401A might play a protective role in the development of colon cancer.
Pubmed
23894459
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2013
Drugs